期刊名称：Journal of Clinical Biochemistry and Nutrition
印刷版ISSN：0912-0009
电子版ISSN：1880-5086
出版年度：2000
卷号：29
页码：37-44
DOI：10.3164/jcbn.29.37
出版社：The Society for Free Radical Research Japan
摘要：Menkes' disease is an inherited disorder of copper homeostasis that arises from a deficiency in copper-transporting P-type ATPase, the mouse gene for which is designated Atp7a . The macular and the viable-brindled mouse are among Menkes' disease models and have been shown to have respective single missense mutations in their genes. In this study we tested whether these mutations are a cause of the disease. Yeast strain Δ ccc2 , lacking CCC2 , the yeast homologue of Atp7a , was used to examine whether this mutant yeast can be rescued by expression of acular or viable-brindled Atp7a protein when cultured in copper- and iron-deficient medium. Expression of both mutant Atp7a proteins was found to enable the growth of Δ ccc2 yeast, but the growth rates were less than one-fifth of the rate observed for Δ ccc2 yeast expressing wild-type Atp7a protein. Thus it is clear that the missense mutations of both animal models for Menkes' disease are responsible for the impaired function of copper transport.
